A new study has identified a genetic mutation that could be linked to an aggressive type of ovarian cancer driven by hormones.

L-R: Professor Peter Fuller, Dr Simon Chu, Maria Alexiadis

A team of scientists at Hudson Institute of Medical Research, with collaborators at the Peter MacCallum Cancer Centre and the University of Western Australia, used large-scale genome sequencing to map the tumour genome of adult granulosa cell tumours of the ovary.

The results of the study by a team including Maria Alexiadis, Dr Simon Chu, Dr Dilys Leung and Professor Peter Fuller, at Hudson Institute have been published in the American Association of Cancer Research journal, Molecular Cancer Research.

Adult granulosa cell tumors of the ovary (aGCT) are uncommon, affecting approximately five per cent of all women diagnosed with ovarian cancer.

“Fortunately, unlike many other types of ovarian cancer, the majority of aGCT are diagnosed at a stage when they can still be cured by surgery, however women presenting with high-stage disease, or a recurrence, are more likely to succumb to the disease,” Ms Alexiadis said.

Using tissue samples from women with ovarian cancer, the team ran genetic sequencing to identify which genes, or genetic mutations, were driving the aggressive or recurrent tumours.

The team found that a key genetic mutation in the telomerase gene, TERT -124C>T promoter, was present in around 40 per cent of tissue samples from women with aggressive disease, suggesting it was likely to play a role in the development of advanced stage disease.

“Further studies are needed to determine whether this TERT promoter mutation could be used as a clinical biomarker to predict women who may experience recurrence or aggressive disease,” Ms Alexiadis says.

This work is supported by the Ovarian Cancer Research Foundation (OCRF), Cancer Council Victoria, the Granulosa Cell Tumor of the Ovary Foundation; the National Health & Medical Research Council of Australia and the Endocrine Society of Australia.